The NIH is interested in advancing genome-wide association studies (GWAS) to identify common genetic factors that influence health and disease because the information derived from such studies will be essential for developing new approaches to reduce disease burden and promote health. GWAS are currently defined as any study of genetic variation across the entire genome that is designed to identify genetic associations with phenotypic traits or disease status. The purpose of this Notice is to inform investigators of the NIH plans to (1) update data sharing policies for research applications involving GWAS data; (2) initiate a public consultation process to inform policy development activities over the next few months; and (3) announce the agency's intent to track GWAS applications and awards at a central level.

Need for Broad Data Sharing Policies

Rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. Consistent with the NIH mission to improve public health through research and the longstanding NIH policy to make available to the public the results of the research activities that it funds, the NIH has concluded that the full value of GWAS can be realized only if the genotype and phenotype datasets derived from GWAS are made available as rapidly as possible to a wide range of scientific investigators. The NIH recognizes that GWAS data release practices must be consistent with the informed consent provided by individual participants and, therefore, encourages investigators to develop informed consent approaches in the future that permit such data sharing.

The NIH considers broad data access to be particularly important for GWAS because of the significant resources involved (which necessarily limits the number of projects that can be supported for any disease), the serious analytical challenges involved in such large datasets, and the powerful opportunities that will be provided by the ability to make comparisons across multiple studies.

Plans for Public Consultation

To ensure maximum benefit to the public health, the NIH is considering policy and programmatic steps to promote broad and consistent sharing of GWAS data for all NIH-supported GWAS genotype-phenotype datasets, such as strong encouragement for early release of phenotype and genotype data, and the development of a central database to serve as a common GWAS repository (consistent with human subject protection issues). Recognizing the range of issues to be considered, the NIH plans to undertake an extensive public consultation effort through interactions with scientific and public stakeholders . The specific plans for these activities will be announced broadly in the near future. Among the potential topics to be considered are: the creation of a central genotype-phenotype database that could serve as a common data repository for all NIH-supported GWAS, requirements for submission of data to such a common repository, appropriate policies for access to GWAS data, standards for participant protection in this rapidly evolving area of science, publication polices that recognize the interests of the researchers who collect samples and associated data, and intellectual property considerations for inventions arising from the use of GWAS data.

Tracking of GWAS Applications and Awards

The NIH encourages applications for large-scale genome-wide genotyping in areas of programmatic relevance to ICs throughout the NIH during this period of rapid development in the associated technology, science, and policy arenas. The NIH will begin tracking GWAS applications at a central level, because these studies are likely to result in findings that will have relevance across a broad spectrum of topics related to health and disease in a way that was not possible previously. Therefore, the NIH requests that all proposed GWAS applications cite this Notice in a cover letter that accompanies the application.

Among the issues that should be addressed in applications by investigators for GWAS are:

evidence for a genetic contribution to the trait(s) or disorder(s) to be studied,

the size of the genetic effect and the power required to detect it,

the potential public health significance of the trait(s) or disorders(s) to be studied,

the quality and extent of the available phenotype and exposure data in the sample population(s) to be studied,

human subjects issues and potential privacy concerns,

plans for data sharing and handling, and

Intellectual property.

A number of these issues are crucial to determining the potential utility of a whole genome analysis strategy and thus the scientific merit and relative program priority of individual studies. The inclusion of detailed phenotypic characterization of the subjects and descriptions of any endophenotypes or secondary phenotypes that have been measured will be essential to determine funding priority. Human subjects and potential privacy issues, if applicable, must be fully addressed prior to the award of funds. Plans for data sharing and how the institution will handle intellectual property will determine whether NIH policy goals can be met by studies described in applications for NIH funds.

Starting immediately, the issues listed above should be addressed carefully in any GWAS applications to NIH, including applications submitted in response to specific GWAS RFAs that some ICs have already released, as well as applications for future RFAs or PAs and unsolicited applications for any of the ICs.

Inquiries

Specific questions about this Notice should be directed to the IC Contacts listed below: